Sudden death in young people
Gene: NKX2-5
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Changed rating from red to grey: NKX2-5 is red on the V1.5 'Dilated Cardiomyopathy and conduction defects' panel. Most patients have atrial septal defects that would be picked up on a post mortem examination.Created: 6 Dec 2016, 4:34 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- Other
- Phenotypes
-
- Ventricular septal defect 3, 614432
- sudden cardiac death
- Tags
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- Complete
- Panels with this gene
-
- Sudden death in young people
- Skeletal dysplasia
- Familial non syndromic congenital heart disease
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Progressive cardiac conduction disease
- Laterality disorders and isomerism
- Rare multisystem ciliopathy disorders
- Congenital hypothyroidism
- Clefting
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NKX2-5.
19 Dec 2016, Gel status: 0
panel promoted to version 1
Ellen Thomas (Genomics England Curator)This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
6 Dec 2016, Gel status: 0
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been removed from the panel.
6 Dec 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)NKX2-5 was added to Sudden death in young peoplepanel. Sources: Other
6 Dec 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)NKX2-5 was created by rfoulger